HsaEX6063043 @ hg38
Exon Skipping
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125307691-125312612:+
Coord C1 exon
chr9:125307691-125307880
Coord A exon
chr9:125309929-125310009
Coord C2 exon
chr9:125312452-125312612
Length
81 bp
Sequences
Splice sites
3' ss Seq
TTAATGCTTTTGCAACCCAGGAC
3' ss Score
4.92
5' ss Seq
TTGGTGGGT
5' ss Score
4.3
Exon sequences
Seq C1 exon
GTGAATTTTATGAAGAGTGTGATGTCTGGAGATCAACTGAGAGAAGATAGAATGGCTCTTGACAATTTATTGGCAAACCTACCCCCGGCCAAGCCAGGAAAAAGTAGCAGTTTAGAAATGACTCCCTACAATACACCTCAGCTATCTCCAGCAACCACTCCAGCAAATAAAAAGAATCGATTACCTATAG
Seq A exon
GACAACAGTTAGCAGCCATCACTGCCTGGGATTCCTCAGCTACCAATATTACCTCTCATATTACAGTAGTAACCCCGTTTG
Seq C2 exon
CAACTCGGAGCAGAAGCCGCACCAATATGCTAATGGACCTACATATGGACCATGAAGGATCATCTCAAGAAACCATTCAGGAGGTGCAACCAGAAGAGGTGTTGGTCATTTCCTTAGGTACAGGTCCCCAGCTTACTCCAGGGATGATGTCAGAAAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219-'42-51,'42-50,44-51=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.680 A=0.071 C2=0.994
Domain overlap (PFAM):
C1:
PF153241=TALPID3=FE(29.9=100)
A:
NO
C2:
PF153241=TALPID3=FE(25.1=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACCTCAGCTATCTCCAGCA
R:
ATGACCAACACCTCTTCTGGT
Band lengths:
167-248
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains